Primary hyperoxaluria type 2

Common Name(s)

Primary hyperoxaluria type 2

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Primary hyperoxaluria type 2" for support, advocacy or research.

Oxalosis & Hyperoxaluria Foundation

To seek the cause, improve the clinical treatment and discover the cure of hyperoxaluria and oxalate stone disease and enhance the quality of life of patients and their families.

Last Updated: 19 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Primary hyperoxaluria type 2" for support, advocacy or research.

Oxalosis & Hyperoxaluria Foundation

To seek the cause, improve the clinical treatment and discover the cure of hyperoxaluria and oxalate stone disease and enhance the quality of life of patients and their families.

http://www.ohf.org/

Last Updated: 19 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Primary hyperoxaluria type 2" returned 8 free, full-text research articles on human participants. First 3 results:

Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism.
 

Author(s): Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová, Daniel Böhmer

Journal:

 

Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient enzyme activity, excessive amounts of oxalate and ...

Last Updated: 1 Jun 2017

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Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3.
 

Author(s): Julia R MacDonald, Amadeus D Huang, Kerry M Loomes

Journal: FEBS Lett.. 2016 May;590(10):1467-76.

 

Primary hyperoxaluria type-3 is characterized by increased oxalate production caused by mutations in the HOGA1 gene encoding 4-hydroxy-2-oxoglutarate aldolase (HOGA1). How the most commonly occurring mutations affect the cellular fates of the expressed HOGA1 mutants is still unknown. ...

Last Updated: 25 May 2016

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4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition.
 

Author(s): Travis J Riedel, John Knight, Michael S Murray, Dawn S Milliner, Ross P Holmes, W Todd Lowther

Journal: Biochim. Biophys. Acta. 2012 Oct;1822(10):1544-52.

 

Mutations in the gene encoding for 4-hydroxy-2-oxoglutarate aldolase (HOGA) are associated with an excessive production of oxalate in Primary Hyperoxaluria type 3 (PH3). This enzyme is the final step of the hydroxyproline degradation pathway within the mitochondria and catalyzes the ...

Last Updated: 13 Aug 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Primary hyperoxaluria type 2" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

ERADICATE Hp2 - Treating Helicobacter Pylori With RHB-105 Compared to Active Comparator
 

Status: Recruiting

Condition Summary: Helicobacter Pylori Infection; Dyspepsia

 

Last Updated: 27 Jun 2017

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Study of ALN-GO1 in Healthy Adult Subjects and Patients With Primary Hyperoxaluria Type 1
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria Type 1 (PH1)

 

Last Updated: 18 Aug 2017

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Rare Kidney Stone Consortium Biobank
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Dent Disease; APRT Deficiency; Cystinuria

 

Last Updated: 3 Aug 2017

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